Polycystic Liver Disease

The term polycystic liver disease refers to a condition in which the liver contains multiple cysts, or cavities filled with fluid. Most of the time, these cause no symptoms and pose no problems. They are sometimes found in the liver when imaging studies such as ultrasound or CT scans are done for other conditions. Polycystic liver disease is associated with polycystic kidney disease. In most types of polycystic kidney disease, the cysts in the kidneys can be a problem, but the associated liver cysts are usually never of significance. The type of polycystic kidney disease determines what happens in the liver.

Causes

Polycystic kidney disease is the term for a group of inherited disorders of the kidneys caused by a number of different abnormal genes. One type is autosomal dominant, meaning one parent who has the disorder can pass it on to his or her children. This type of polycystic kidney disease is relatively common, with one in a thousand people affected.

Other types are caused by recessive genes. This means that both parents have to have the abnormalities for their children to have the condition. The recessive type is less common, occurring in one of twenty thousand people.

Symptoms

The most common type of polycystic kidney disease, autosomal dominant polycystic kidney disease (ADPKD), is frequently asymptomatic despite the fact that there can be hundreds of cysts in each kidney. In fact, half of the people with it never develop symptoms and are not diagnosed. When symptoms do develop, most are related to the kidneys, such as pain, blood in the urine, kidney stones, and kidney infections. Other organs may be affected, including the intestines and pancreas, as well as arteries in the brain and heart. Symptoms can occur from any of these affected areas.

Liver cysts are almost always asymptomatic. Occasionally they can be painful. This happens if they enlarge or become infected. But in almost all cases, the liver cysts are not a problem.

Autosomal recessive polycystic kidney disease is much more serious. The lungs can be abnormal. Many infants do not survive because their lungs are not developed enough. For those that survive, the kidneys may fail early.

In addition to poorly functioning kidneys, lungs, and liver cysts, this condition leads to liver scarring, especially around veins, even though the liver cells still function. Scarring can obstruct the outflow of blood from the liver, causing a condition known as portal hypertension.

When this happens, blood backs up, and life-threatening bleeding can occur in the esophagus. In children and teenagers, the main symptoms of polycystic kidney disease may be from portal hypertension and not kidney failure.

Symptoms vary depending on age and which organs are damaged the most.

Testing and Diagnosis

ADPKD can be diagnosed by ultrasound or other imaging studies. Analysis of the urine and blood tests for kidney function can be useful. Whether or not to screen for other problems depends on the family history and physical examination. Genetic testing can be done.

Diagnosis of autosomal recessive polycystic kidney disease can be difficult unless there is a family history of the disease. Ultrasound is the best way to look for the cysts in the liver and the kidneys. The cysts may be visible during a routine pregnancy ultrasound and the diagnosis may be suspected before birth. Later, a biopsy may be needed. These children are extremely sick and need extensive evaluation.

Treatment

People with symptomatic ADPKD who live long enough will eventually develop kidney failure. Treatment is aimed at reducing other damage to the kidneys, for example, treating high blood pressure and any infections. There are specific medications that may slow down this disease. Kidney failure can be treated with dialysis or a kidney transplant. The liver cysts essentially never need treatment.

Newborns with autosomal recessive polycystic kidney disease need support for their lungs. If they survive, depending on their age, the kidneys or the liver will need treatment. Surgical treatment of portal hypertension is possible, shunting away some of the blood that is unable to move normally through the liver. A liver transplant may be necessary.

If the kidneys fail, dialysis can be used until a transplant is possible. These patients may need both a liver and kidney transplant. However not that many transplants of kidneys, along with liver, have been done.